Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations

Anorectal malformations (ARM) represent a spectrum of rare malformations originating from a perturbated development of the embryonic hindgut. Approximately 60% occur as a part of a defined genetic syndrome or within the spectrum of additional congenital anomalies. Rare copy number variations (CNVs)...

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Detalles Bibliográficos
Autores principales: Fabian, Julia, Dworschak, Gabriel C., Waffenschmidt, Lea, Schierbaum, Luca, Bendixen, Charlotte, Heilmann-Heimbach, Stefanie, Sivalingam, Sugirthan, Buness, Andreas, Schwarzer, Nicole, Boemers, Thomas M., Schmiedeke, Eberhard, Neser, Jörg, Leonhardt, Johannes, Kosch, Ferdinand, Weih, Sandra, Gielen, Helen Maya, Hosie, Stuart, Kabs, Carmen, Palta, Markus, Märzheuser, Stefanie, Bode, Lena Marie, Lacher, Martin, Schäfer, Frank-Mattias, Stehr, Maximilian, Knorr, Christian, Ure, Benno, Kleine, Katharina, Rolle, Udo, Zaniew, Marcin, Phillip, Grote, Zwink, Nadine, Jenetzky, Ekkehart, Reutter, Heiko, Hilger, Alina C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9822900/
https://www.ncbi.nlm.nih.gov/pubmed/36319675
http://dx.doi.org/10.1038/s41431-022-01216-5

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